Incidental Mutation 'R6749:Camk1'
ID 532884
Institutional Source Beutler Lab
Gene Symbol Camk1
Ensembl Gene ENSMUSG00000030272
Gene Name calcium/calmodulin-dependent protein kinase I
Synonyms CaMKIalpha, D6Ertd263e, Camk
MMRRC Submission 044866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6749 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 113311085-113320883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113311486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 340 (P340L)
Ref Sequence ENSEMBL: ENSMUSP00000032409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032406] [ENSMUST00000032409] [ENSMUST00000136263] [ENSMUST00000155543] [ENSMUST00000204834]
AlphaFold Q91YS8
Predicted Effect probably benign
Transcript: ENSMUST00000032406
SMART Domains Protein: ENSMUSP00000032406
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 141 4e-38 PFAM
ENDO3c 146 316 4.84e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000032409
AA Change: P340L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000032409
Gene: ENSMUSG00000030272
AA Change: P340L

DomainStartEndE-ValueType
S_TKc 20 276 5.03e-111 SMART
low complexity region 319 336 N/A INTRINSIC
low complexity region 358 370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136263
SMART Domains Protein: ENSMUSP00000144792
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 130 3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155543
SMART Domains Protein: ENSMUSP00000117749
Gene: ENSMUSG00000030272

DomainStartEndE-ValueType
Pfam:Pkinase 8 162 1.4e-45 PFAM
Pfam:Pkinase_Tyr 9 162 1.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204834
SMART Domains Protein: ENSMUSP00000144905
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 134 1.2e-27 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,600 (GRCm39) V875A possibly damaging Het
Arhgef15 A T 11: 68,845,383 (GRCm39) F156L probably damaging Het
Bdh2 T A 3: 135,006,452 (GRCm39) S184T probably damaging Het
Bmp5 A T 9: 75,683,375 (GRCm39) M1L probably benign Het
Cacfd1 T C 2: 26,908,467 (GRCm39) Y134H probably damaging Het
Cdc14a T C 3: 116,090,807 (GRCm39) H424R possibly damaging Het
Cntfr T A 4: 41,663,232 (GRCm39) T192S possibly damaging Het
Erbin G T 13: 103,970,885 (GRCm39) S910R probably damaging Het
Esrp1 A T 4: 11,357,519 (GRCm39) V366E probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 T A 2: 82,808,738 (GRCm39) S1686T possibly damaging Het
Gata5 A G 2: 179,976,143 (GRCm39) L7S probably damaging Het
Hgf T A 5: 16,818,640 (GRCm39) probably null Het
Ift140 A G 17: 25,317,890 (GRCm39) E1458G probably damaging Het
Ift57 G A 16: 49,581,347 (GRCm39) G209R probably benign Het
Il12rb2 G T 6: 67,338,950 (GRCm39) probably benign Het
Krt78 G A 15: 101,859,358 (GRCm39) R280C probably damaging Het
Lipc A G 9: 70,730,668 (GRCm39) I88T probably damaging Het
Lrmda G T 14: 22,077,344 (GRCm39) R27L probably benign Het
Lrrc37a T G 11: 103,392,923 (GRCm39) E834A probably benign Het
Mmachc C A 4: 116,561,738 (GRCm39) R132L probably damaging Het
Myo10 T C 15: 25,714,196 (GRCm39) Y88H probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Or2y1f A G 11: 49,184,877 (GRCm39) H243R probably damaging Het
Padi3 T C 4: 140,523,164 (GRCm39) T289A possibly damaging Het
Pcdhgb4 G T 18: 37,854,282 (GRCm39) A226S possibly damaging Het
Pde4c T C 8: 71,198,659 (GRCm39) V167A probably damaging Het
Pigr A G 1: 130,774,285 (GRCm39) T422A probably benign Het
Pmp2 T C 3: 10,247,542 (GRCm39) Y49C probably benign Het
Prpf39 A G 12: 65,103,048 (GRCm39) I441V possibly damaging Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rsad1 T C 11: 94,434,166 (GRCm39) E354G probably damaging Het
Sema4b T A 7: 79,869,949 (GRCm39) D412E possibly damaging Het
Siglecg A G 7: 43,058,403 (GRCm39) I97V probably benign Het
Slc4a3 C T 1: 75,531,182 (GRCm39) R792* probably null Het
Slc6a20a A G 9: 123,466,135 (GRCm39) C569R probably damaging Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Sult2a3 T A 7: 13,816,629 (GRCm39) Y183F probably benign Het
Tedc1 C T 12: 113,121,702 (GRCm39) T194M probably damaging Het
Tektl1 A C 10: 78,588,672 (GRCm39) M46R possibly damaging Het
Tmem63c T A 12: 87,122,439 (GRCm39) N412K probably damaging Het
Trav5-1 T C 14: 52,860,402 (GRCm39) I69T possibly damaging Het
Trim68 T C 7: 102,327,990 (GRCm39) D321G probably damaging Het
Ttn T C 2: 76,695,600 (GRCm39) probably benign Het
Vars2 A G 17: 35,977,605 (GRCm39) V109A probably damaging Het
Vmn2r96 C T 17: 18,818,352 (GRCm39) P643L probably damaging Het
Zfpm2 G T 15: 40,818,104 (GRCm39) V146F possibly damaging Het
Znfx1 T C 2: 166,898,519 (GRCm39) K135R probably benign Het
Other mutations in Camk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Camk1 APN 6 113,313,172 (GRCm39) missense probably benign 0.00
IGL01063:Camk1 APN 6 113,315,333 (GRCm39) missense probably damaging 0.98
R0415:Camk1 UTSW 6 113,318,852 (GRCm39) nonsense probably null
R0944:Camk1 UTSW 6 113,315,352 (GRCm39) missense probably damaging 1.00
R2342:Camk1 UTSW 6 113,318,942 (GRCm39) splice site probably benign
R5646:Camk1 UTSW 6 113,316,301 (GRCm39) missense probably damaging 0.99
R6734:Camk1 UTSW 6 113,311,345 (GRCm39) missense probably benign 0.00
R7015:Camk1 UTSW 6 113,318,887 (GRCm39) missense probably benign
R7041:Camk1 UTSW 6 113,316,475 (GRCm39) missense probably benign 0.03
R7355:Camk1 UTSW 6 113,315,307 (GRCm39) missense probably damaging 1.00
R7575:Camk1 UTSW 6 113,315,325 (GRCm39) missense probably damaging 1.00
R7686:Camk1 UTSW 6 113,313,158 (GRCm39) missense probably damaging 1.00
R7748:Camk1 UTSW 6 113,317,289 (GRCm39) missense probably damaging 0.96
R8725:Camk1 UTSW 6 113,315,109 (GRCm39) missense probably damaging 0.99
R9622:Camk1 UTSW 6 113,318,850 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- AATCCATGGCCCTAGAGCTTG -3'
(R):5'- GTAACACCTTACAGAGTCGGG -3'

Sequencing Primer
(F):5'- CCCTAGAGCTTGGGGGTG -3'
(R):5'- TTACAGAGTCGGGGAGCCTC -3'
Posted On 2018-08-29